公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2006 | Tandem mass neonatal screening in Taiwan - Report from one center | HSIANG-PO HUANG ; Chu K.-L.; YIN-HSIU CHIEN ; Wei M.-L.; Wu S.-T.; Wang S.-F.; WUH-LIANG HWU | Journal of the Formosan Medical Association | 33 | 25 | |
2004 | Terminal deletion of chromosome 2q associated with Graves' disease: A case report and literature review | Chu S.-Y.; WEN-YU TSAI ; YIN-HSIU CHIEN ; Fang J.-S.; Ku C.-W.; Chang P.-Y.; WUH-LIANG HWU | Tzu Chi Medical Journal | 1 | | |
2021 | Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma | Ramaswami U.; Mengel E.; Berrah A.; AlSayed M.; Broomfield A.; Donald A.; seif El Dein H.M.; Freisens S.; WUH-LIANG HWU ; Peterschmitt M.J.; Yoo H.-W.; Abdelwahab M. | Molecular Genetics and Metabolism | 11 | 9 | |
2021 | Thymidine kinase 2 deficiency-induced adult-onset ptosis and proximal weakness | Cheng, Chang-Yu; Chang, Kai-Chieh; HSUEH-WEN HSUEH ; NI-CHUNG LEE ; PEI-HSIN HUANG ; Chih-Chao Yang ; WUH-LIANG HWU ; SUNG-TSANG HSIEH ; CHI-CHAO CHAO | Neurology: Clinical Practice | 1 | 1 | |
2020 | Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center | Liu M.-Y.; CHENG-TING LEE ; NI-CHUNG LEE ; YI-CHING TUNG ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Tsai W.-Y. | Journal of the Formosan Medical Association | 3 | 0 | |
2006 | Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency | NI-CHUNG LEE ; YIN-HSIU CHIEN ; Kobayashi K.; Saheki T.; HUEY-LING CHEN ; Chiu P.-C.; YEN-HSUAN NI ; MEI-HWEI CHANG ; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 28 | 15 | |
2020 | The timely needs for infantile onset pompe disease newborn screening—practice in Taiwan | Chiang S.-C.; YIN-HSIU CHIEN ; Chang K.-L.; NI-CHUNG LEE ; WUH-LIANG HWU | International Journal of Neonatal Screening | 1 | 1 | |
2008 | Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease | Huang P.-K.; Wang C.-C.; SHUENN-NAN CHIU ; EN-TING WU ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; JOU-KOU WANG ; MEI-HWAN WU | Paediatric Anaesthesia | 5 | 6 | |
2020 | Towards a reference genome that captures global genetic diversity | Wong, Karen H. Y.; Ma, Walfred; Wei, Chun-Yu; Yeh, Erh-Chan; Lin, Wan-Jia; Wang, Elin H. F.; Su, Jen-Ping; Hsieh, Feng-Jen; Kao, Hsiao-Jung; Chen, Hsiao-Huei; Chow, Stephen K.; Young, Eleanor; Chu, Catherine; Poon, Annie; Yang, Chi-Fan; Lin, Dar-Shong; Hu, Yu-Feng; Wu, Jer-Yuarn; NI-CHUNG LEE ; WUH-LIANG HWU ; Boffelli, Dario; Martin, David; Xiao, Ming; Kwok, Pui-Yan | Nature Communications | 15 | 16 | |
2019 | Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases | Posset R.; Garbade S.F.; Boy N.; Burlina A.B.; Dionisi-Vici C.; Dobbelaere D.; Garcia-Cazorla A.; de Lonlay P.; Teles E.L.; Vara R.; Mew N.A.; Batshaw M.L.; Baumgartner M.R.; McCandless S.E.; Seminara J.; Summar M.; Hoffmann G.F.; K?lker S.; Burgard P.; Berry S.A.; Burrage L.; Coughlin C.; Diaz G.A.; Gallagher R.C.; Gropman A.; Harding C.O.; Lee B.; Le Mons C.; Lawrence Merritt J.; II, Nagamani S.C.S.; Schulze A.; Stricker T.; Tuchman M.; Waisbren S.; WeisfeldAdams J.; Wong D.; Yudkoff M.; Arnoux J.; Barić I.; Bosch A.M.; Chabrol B.; Chakrapani A.; Cort?sSaladefont E.; Couce M.L.; Eyskens F.; de Laet C.; de Meirleir L.; Freisinger P.; Gleich F.; Gr?newald S.; H?berle J.; WUH-LIANG HWU ; Jalan A.; Karall D.; Lindner M.; Lund A.M.; Martinelli D.; Murphy E.; M?hlhausen C.; Olivieri G.; Ottolenghi C.; Rodrigues E.; Rubert L.; Sarajlija A.; Schiff M.; Sokal E.; SykutCegielska J.; Walter J.H.; Williams M.; Zeman J.; Additional individual contributors of the UCDC; the E-IMD consortium | Journal of Inherited Metabolic Disease | 34 | 26 | |
1992 | Transfusion‐acquired cytomegalovirus infection in children in a hyperendemic area | PING-ING LEE ; MEI-HWEI CHANG ; WUH-LIANG HWU ; CHUAN-LIANG KAO ; CHIN-YUN LEE | Journal of Medical Virology | 14 | 10 | |
2001 | Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations | YIN-HSIU CHIEN ; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU ; Chou S.-P.; Chu S.-Y.; Wang T.-R.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 32 | 20 | |
2014 | Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector | NI-CHUNG LEE ; YIN-HSIU CHIEN ; Hu M.-H.; Liu W.-S.; Chen P.-W.; Wang W.-H.; KAI-YUAN TZEN ; Byrne B.J.; WUH-LIANG HWU | Human Gene Therapy | 15 | 15 | |
2007 | Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. | YIN-HSIU CHIEN ; NI-CHUNG LEE ; LI-KAI TSAI ; Huang A.C.; STEVEN SHINN-FORNG PENG ; SHYH-JYE CHEN ; WUH-LIANG HWU | Journal of inherited metabolic disease | 43 | 36 | |
2004 | Trisomy 18 in monozygotic twins with discordant phenotypes | Lee J.-T.; HUNG-CHIEH CHOU ; PO-NIEN TSAO ; WU-SHIUN HSIEH ; WUH-LIANG HWU | Journal of the Formosan Medical Association | 6 | 5 | |
2024 | Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights | HUI-AN CHEN ; Hsu, Rai Hseng; Chen, Li Chu; NI-CHUNG LEE ; Chiu, Pao Chin; WUH-LIANG HWU ; YIN-HSIU CHIEN | Molecular Genetics and Metabolism Reports | | | |
1998 | Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with apert syndrome | Tsai F.-J.; WUH-LIANG HWU ; Lin S.-P.; Chang J.-G.; Wang T.-R.; Tsai C.-H. | Human Mutation | 2 | 0 | |
2003 | Two novel mutations in the α-galactosidase A gene in Chinese patients with Fabry disease | Yang C.-C.; Lai L.-W.; Whitehair O.; WUH-LIANG HWU ; Chiang S.-C.; Lien Y.-H.H. | Clinical Genetics | 19 | 16 | |
2005 | Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation | CHUN-AN CHEN ; Tang N.L.S.; YIN-HSIU CHIEN ; Zhang W.-M.; JOU-KOU WANG ; WUH-LIANG HWU | BMC Medical Genetics | 3 | 3 | |
2020 | Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice | NI-CHUNG LEE ; Peng W.-H.; LI-KAI TSAI ; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; WUH-LIANG HWU ; Tseng W.-Y.I.; YIN-HSIU CHIEN | Scientific Reports | 2 | 2 | |